Linked Data
dbSNP Id:
rs1279286928
gnomAD v2:
1-19404656-T-C
gnomAD v3:
1-19078162-T-C
gnomAD v4:
1-19078162-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19078162T>C , CM000663.2:g.19078162T>C | GRCh38 |
| NC_000001.10:g.19404656T>C , CM000663.1:g.19404656T>C | GRCh37 |
| NC_000001.9:g.19277243T>C | NCBI36 |
| NG_027669.1:g.137091A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15234-96A>G MANE Select | ENSP00000364403.3:n.15234-96A>G | |
| ENST00000375224.1:c.2355-96A>G | ENSP00000364372.1:n.2355-96A>G | |
| ENST00000375225.7:c.459-96A>G | ENSP00000364373.3:n.459-96A>G | |
| ENST00000375254.7:c.15234-96A>G | ENSP00000364403.3:n.15234-96A>G | |
| ENST00000459947.5:n.3145A>G | ||
| NM_020765.2:c.15234-96A>G | NP_065816.2:n.15234-96A>G | |
| XM_011541108.1:c.15387-96A>G | XP_011539410.1:n.15387-96A>G | |
| XM_011541109.1:c.15384-96A>G | XP_011539411.1:n.15384-96A>G | |
| XM_011541110.1:c.15384-96A>G | XP_011539412.1:n.15384-96A>G | |
| XM_011541111.1:c.15384-96A>G | XP_011539413.1:n.15384-96A>G | |
| XM_011541112.1:c.15372-96A>G | XP_011539414.1:n.15372-96A>G | |
| XM_011541113.1:c.15369-96A>G | XP_011539415.1:n.15369-96A>G | |
| XM_011541114.1:c.15369-96A>G | XP_011539416.1:n.15369-96A>G | |
| XM_011541115.1:c.15363-96A>G | XP_011539417.1:n.15363-96A>G | |
| XM_011541116.1:c.15354-96A>G | XP_011539418.1:n.15354-96A>G | |
| XM_011541117.1:c.15303-96A>G | XP_011539419.1:n.15303-96A>G | |
| XM_011541118.1:c.15300-96A>G | XP_011539420.1:n.15300-96A>G | |
| XM_011541119.1:c.15267-96A>G | XP_011539421.1:n.15267-96A>G | |
| XM_011541120.1:c.15264-96A>G | XP_011539422.1:n.15264-96A>G | |
| XM_011541121.1:c.15231-96A>G | XP_011539423.1:n.15231-96A>G | |
| XM_011541108.3:c.15501-96A>G | XP_011539410.2:n.15501-96A>G | |
| XM_011541109.3:c.15498-96A>G | XP_011539411.2:n.15498-96A>G | |
| XM_011541110.3:c.15498-96A>G | XP_011539412.2:n.15498-96A>G | |
| XM_011541111.3:c.15498-96A>G | XP_011539413.2:n.15498-96A>G | |
| XM_011541112.3:c.15486-96A>G | XP_011539414.2:n.15486-96A>G | |
| XM_011541113.3:c.15483-96A>G | XP_011539415.2:n.15483-96A>G | |
| XM_011541114.3:c.15483-96A>G | XP_011539416.2:n.15483-96A>G | |
| XM_011541115.3:c.15477-96A>G | XP_011539417.2:n.15477-96A>G | |
| XM_011541116.3:c.15468-96A>G | XP_011539418.2:n.15468-96A>G | |
| XM_011541117.3:c.15417-96A>G | XP_011539419.2:n.15417-96A>G | |
| XM_011541118.3:c.15414-96A>G | XP_011539420.2:n.15414-96A>G | |
| XM_011541119.3:c.15381-96A>G | XP_011539421.2:n.15381-96A>G | |
| XM_011541120.3:c.15378-96A>G | XP_011539422.2:n.15378-96A>G | |
| XM_011541121.3:c.15345-96A>G | XP_011539423.2:n.15345-96A>G | |
| XM_017000822.2:c.15480-96A>G | XP_016856311.2:n.15480-96A>G | |
| XM_017000823.2:c.15453-96A>G | XP_016856312.2:n.15453-96A>G | |
| XM_017000824.2:c.15399-96A>G | XP_016856313.2:n.15399-96A>G | |
| XM_017000825.2:c.15384-96A>G | XP_016856314.2:n.15384-96A>G | |
| XM_017000826.2:c.15381-96A>G | XP_016856315.2:n.15381-96A>G | |
| XM_017000827.2:c.15366-96A>G | XP_016856316.2:n.15366-96A>G | |
| XM_017000828.2:c.15342-96A>G | XP_016856317.2:n.15342-96A>G | |
| XM_017000829.2:c.15294-96A>G | XP_016856318.2:n.15294-96A>G | |
| XM_017000830.2:c.15243-96A>G | XP_016856319.2:n.15243-96A>G | |
| NM_020765.3:c.15234-96A>G MANE Select | NP_065816.2:n.15234-96A>G |